ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.6101A>T (p.Asn2034Ile)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology RCV002465076 SCV002759471 uncertain significance Polycystic kidney disease 4 2022-10-19 criteria provided, single submitter clinical testing The c.6101A>T variant is not present in publicly available population databases like 1000 Genomes, EVS, ExAC, gnomAD, Indian Exome Database or our in-house exome database. This variant has neither been published nor reported to clinical databases like OMIM, ClinVar and/or Human Genome Mutation Database (HGMD), in any affected individuals. In-silico pathogenicity prediction programs like SIFT, Polyphen2, MutationTaster2, CADD, etc. predicted this variant to be likely deleterious, however these predictions were not confirmed by any published functional studies.

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